Canonical Allele Identifier: CA2609138826

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49482753-AGGCAACGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482755_49482762del , CM000672.2:g.49482755_49482762del	GRCh38
NC_000010.10:g.50690801_50690808del , CM000672.1:g.50690801_50690808del	GRCh37
NC_000010.9:g.50360807_50360814del	NCBI36
NG_009442.1:g.61341_61348del , LRG_465:g.61341_61348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2095_2102del MANE Select	ENSP00000348089.5:p.Thr699CysfsTer?
ENST00000681632.1:n.2173_2180del
ENST00000681659.1:c.1936_1943del	ENSP00000505631.1:p.Thr646CysfsTer?
ENST00000355832.9:c.2095_2102del	ENSP00000348089.5:p.Thr699CysfsTer?
ENST00000623073.3:c.*487_*494del	ENSP00000485650.1:n.*487_*494del
ENST00000623115.3:c.205_212del	ENSP00000485321.1:p.Thr69CysfsTer?
NM_000124.3:c.2095_2102del	NP_000115.1:p.Thr699CysfsTer?
NM_001346440.1:c.2095_2102del	NP_001333369.1:p.Thr699CysfsTer?
NM_000124.4:c.2095_2102del MANE Select	NP_000115.1:p.Thr699CysfsTer?
NM_001346440.2:c.2095_2102del	NP_001333369.1:p.Thr699CysfsTer?